Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43093454C>ACA001377BRCA1c.2077G>T (p.Asp693Tyr)
c.1936G>T (p.Asp646Tyr)
c.787+1290G>T (p.=)
n.2213G>T
c.670+2392G>T (p.=)
c.*1860G>T (p.=)
c.784+1290G>T (p.=)
n.409+1290G>T (p.=)
n.412+1290G>T (p.=)
c.646+1290G>T (p.=)
c.5-29503G>T (p.=)
c.-43-18933G>T (p.=)
c.-99+31817G>T (p.=)
c.1954G>T (p.Asp652Tyr)
ClinVar dbSNP
17g.43093454C>TCA001376BRCA1c.2077G>A (p.Asp693Asn)
c.1936G>A (p.Asp646Asn)
c.787+1290G>A (p.=)
n.2213G>A
c.670+2392G>A (p.=)
c.*1860G>A (p.=)
c.784+1290G>A (p.=)
n.409+1290G>A (p.=)
n.412+1290G>A (p.=)
c.646+1290G>A (p.=)
c.5-29503G>A (p.=)
c.-43-18933G>A (p.=)
c.-99+31817G>A (p.=)
c.1954G>A (p.Asp652Asn)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched